• Journal of Chest Surgery
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• v.38 no.8 s.253
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• pp.583-588
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• 2005

Congenital tracheal stenosis can be a life-threatening disease, especially in cases involving the long-segment of the trachea. When patients are symptomatic immediately after birth or develop an accompanying complex cardiac anomaly, surgical repair can be a considerable challenge. We experienced a tracheoplasty in one early infant weighing 2.6 kg and one neonate who had ventilator dependency from long-segment congenital tracheal stenosis and congenital cardiac anomaly. One early infant, who had diffuse stenosis of distal trachea after ventricular septal defect closure, underwent resection and extended end to end anastomosis. One neonate who had diffuse stenosis of proximal trachea with tetralogy of Fallot (TOF), underwent slide tracheoplasty with total correction for TOF Postoperative chest computed tomography showed widely patent trachea. Both infants are now well without symptoms.

• Journal of Chest Surgery
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• v.35 no.4
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• pp.303-306
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• 2002

Patients with severe Ebstein's anomaly showing in the neonatal period, represent progressive cardiac enlargement with pulmonary hypoplasia and functional pulmonary atresia with patent ductus alteriosus-dependent pulmonary circulation. Biventricular repair in these patients had been mostly unsuccessful except for Starnes' procedure that converts the anatomy to single ventricle physiology for Fontan procedure. A 4-days old male was admitted with the diagnosis of severe Ebstein's anomaly with anatomic pulmonary atresia and severe cardiac enlargement. He successfully underwent biventricular repair with vertical plication method of atrialized right ventricle, tricupid annuloplasty, transannular right ventricular outflow tract reconstrulltion, atrial septal defect patch closure with fenestration, and right atrial reduction angioplasty Postoperatively, cardiothoracic ratio was significantly reduced and mild tricuspid regurgitation was remnant in echocardiography. The patient is currently 10 months old and is fully active without restrictions.

• Childhood Kidney Diseases
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• v.13 no.1
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• pp.26-32
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• 2009

Purpose : The increasing use of ultrasonography has allowed for an increase in the of the detection of congenital hydronephrosis, and the clinical outcomes of congenital hydronephrosis are widely varied. In this study, the necessity of voiding cystourethrography in neonate with hydronephrosis to rule out vesicoureteral reflux (VUR) was evaluated. Methods : Between January 2004 and December 2007, we reviewed the medical record of 157 childrens with congenital hydronephrosis detected within 1 month of age. The severity of hydronephrosis was graded by SFU (Society of Fetal Urology) system, and anterior posterior pelvic diameter (APPD). We evaluated the relationship between severity of hydronephrosis and incidence of VUR by using SPSS windows version 16.0. A P-value<0.05 is considered to be statistically significant. Results : Total renal unit number was 254, and 20(7.8%) renal units had VUR. We did not find any relationship between hydronephrosis grade the presence of VUR grade (P>0.05). In addition, there was no statistical significance between APPD, laterality of hydronephrosis and VUR incidence. However, renal units with VUR had lower spontaneous resolution rate (P<0.05), compared to renal units without VUR. Conclusion : In this study, there was no statistical significance between the severity of hydronephrosis and presence of VUR. Therefore, voiding cystourethrogram is recommended for all children with hydronephrosis to rule out VUR, regardless of the severity of hydronephrosis.

• Childhood Kidney Diseases
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• v.13 no.1
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• pp.84-91
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• 2009

We experienced a female neonate with congenital nephrotic syndrome (CNS) associated with congenital diaphragmatic hernia (CDH). Because of the rare combination of two conditions, we report this case with literature review. CDH was found immediately after birth and emergency operation was done for hernia repair. But on the next day, generalized edema and oliguria(0.59 mL/kg/hour) was found and her blood chemistry showed hypoalbuminemia (1.6 g/dL), increased BUN (27.7 mg/dL) and serum creatinine( 1.8 mg/dL) along with heavy proteinuria (4+). We started albumin infusion with a bolus of intravenous furosemide. We suspected the neonate had congenital nephrotic syndrome and her 24hr urine protein was 1,816 mg/day. In spite of immunosuppressive therapy, the nephrotic syndrome and renal failure progressed. We started peritoneal dialysis on the day of life 22 but it was not satisfactory. She was complicated by intracranial hemorrhage and multi-organ failure and expired at 34 days of age. Kidney necropsy was performed which showed diffuse mesangial sclerosis (DMS). Her chromosome study revealed 46, XX and her gene study revealed a heterozygous missense mutation, Arg366His, in Wilms tumor suppressor gene (WT1). This case deserves attention on account of the 4th case of CNS with CDH revealing the Arg366His mutation in the WT1 gene and G the 1st case of early onset renal failure without male pseudohermaphroditism and Wilms tumor with CNS, CDH and the Arg366His mutation in the WT1 gene. So, this report gives support to the hypothesis that Arg366His mutation in the WT1 gene can result in CNS and CDH.

• Journal of Yeungnam Medical Science
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• v.6 no.2
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• pp.147-157
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• 1989

To investigate the blood lead concentration, their interrelation, correlation factor and influence on pregnant women and newborn, lead concentration in the maternal blood and umbilical cord blood were determined. Samples were collected from 130 mothers who were living in the Taegu City, during March, 1989. Blood lead concentration was estimated using the Atomic Absorption Spectrophotometer(IL. 551) equipped with Flameless Furnace Atomizer (IL. 665). The mean lead concentration of maternal and cord blood were $17.47{\pm}7.92{\mu}g/d{\ell}$, $15.31{\pm}7.98{\mu}g/d{\ell}$, respectively. A significant correlation was observed between the lead concentration of maternal and cord blood, r=0.663, Y=0.667X+3.646. No significant correlation was observed between previous spontaneous abortion and obstetric complication of mother and maternal blood lead concentration. Similarly, no significant correlation was observed between the sex, gestational age of neonate and cord blood lead concentration. But the birth weight of neonate had some negative correlation with cord blood lead concentration. The blood lead concentration of mother who had engaged in manufactures were higher than others and the longer working years were, the higher blood lead concentration were. Significant correlation was observed between husband's occupational exposure to lead and maternal blood lead concentration.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.38-42
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• 2013

Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.47-51
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• 2016

Propionic acidemia (PA) is an autosomal recessively inherited disorder of the organic acid metabolism. It is caused by a deficiency of propionyl-CoA carboxylase (PCC). PCC is a heteropolymeric enzyme composed of ${\alpha}$- and ${\beta}$-subunits. The clinical symptoms of PA are heterogeneous and present vomiting, dehydration, hypotonia, and lethargy, and it can result in death. The typical presentations of neonatal onset PA are life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of neonatal onset PA with mild clinical presentations. She was born to a healthy mother without complications. No significant illness was observed until nine days after birth. She started exhibiting poor oral feeding, vomiting, lethargy, and hypotonia at ten days old. Her laboratory results showed mild hyperammonemia and acidosis. The initial diagnosis was neonatal sepsis and she was treated with antibiotics. However, her clinical symptoms didn't improve. So we considered a metabolic disease. She was given nothing by mouth and intravenous hydration and nutrition support was performed. Propionylglycine and 3-hydroxypropionic acid were showed high concentrations in urine by gas chromatograph mass spectrometry (GC-MS). C3 level of acylcarnitine analysis elevated 10.4 uM/L (range, 0.200-5.00) in plasma. We took gene analysis for PA to be based on the symptoms and laboratory results. We detected PCCB gene mutation and diagnosed PA. She survived without severe neurologic defects and complications and was hospitalized only three times with upper respiratory tract infections for 7 years. We report a case of a ten days old neonate with PA presenting without severe metabolic acidosis and hyperammonemia who was effectively treated with early aggressive care and conventional methods.

• Pediatric Infection and Vaccine
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• v.21 no.2
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• pp.150-156
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• 2014

Despite its rare occurrence, early diagnosis and appropriate treatment for neonatal herpes simplex virus infection are mandatory due to its high morbidity and mortality. In Korea, there has been no epidemiologic data on neonatal herpes simplex virus infection, and even case reports are rare. We observed a 16-day-old neonate who presented with fever and seizures. We diagnosed her with meningoencephalitis caused by herpes simplex virus type 2 based on the polymerase chain reaction test, and treated her with intravenous acyclovir and anticonvulsants. The seroprevalence of herpes simplex virus type 2 sharply increases in women in their 30s, and the average age for childbirth has increased to older than 30 years of age in Korea; we therefore expect that the incidence of neonatal herpes simplex virus type 2 infection will rise in Korea, and more attention should be directed to neonatal herpes simplex virus type 2 infection. We report this newborn patient's case along with a literature review.

• Advances in pediatric surgery
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• v.12 no.2
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• pp.192-201
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• 2006

There are considerable controversies in the management of congenital diaphragmatic hernia. By 1997, early operation, routine chest tube on the ipsilateral side and maintainingrespiratory alkalosis by hyperventilation were our principles (period I). With a transition period from 1998 to 1999, delayed operation with sufficient resuscitation, without routine chest tube, and permissive hypercapnia were adopted as our practice. High frequency oscillatory ventilation (HFOV) and nitric oxide (NO) were applied, if necessary, since year 2000(period II). Sixty-seven cases of neonatal Bochdalek hernia from 1989 to 2005 were reviewed retrospectively. There were 33 and 34 cases in period I and II, respectively. The neonatal survival rates were 60.6 % and 73.5 %, respectively, but the difference was not significant. In period I, prematurity, low birth weight, prenatal diagnosis, inborn, and associated anomalies were considered as the significant poor prognostic factors, all of which were converted to nonsignificant in period II. In summary, improved survival was not observed in later period. The factors considered to be significant for poor prognosis were converted to be nonsignificant after change of the management principle. Therefore, we recommend delayed operation after sufficient period of stabilization and the avoidance of the routine insertion of chest tube. The validity of NO and HFOV needs further investigation.

• Clinical and Experimental Pediatrics
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• v.53 no.2
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• pp.258-261
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• 2010

Lymphangioma is a rare benign congenital tumor of the lymphatic system, which is commonly diagnosed before 2 years of age. In the natronal report, cystic lymphangioma was usually reported as a huge translucent mass located in the head and neck area. It's occurrence in retropharyngeal space with respiratory obstruction and swallowing difficulty in neonate is extremely rare and postoperative nasopharyngeal reflux has rarely been reported. Complete resection is the standard therapy. However, involvement of the upper airway may be determining prognosis in the extensive lymphangiomas because of the difficulty of complete excision. We present a case of cystic lymphangioma in neonate which was initially asymptomatic but gradually progressed to cause respiratory obstruction due to enlargement. After resection, nasopharyngeal reflux developed with dysfunction of the soft palate and gradually improved with conservative care over 5 months.